title: G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).
authors.affiliation: Mount Sinai School of Medicine, Jack and Lucy Clark Department of Pediatrics, New York, New York 10029, USA.
authors.forename: A
authors.initials: A
authors.lastname: Vlachos
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: J M
authors.initials: JM
authors.lastname: Lipton
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D019943:Amino Acid Substitution; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017354:Point Mutation
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase